Background: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap. Observations: We report on 3 children from two unrelated families suffering from JHF. The first child is severely handicapped by joint contracture, massive hyperplasia of the gingivae, diffuse skin papules and subcutaneous nodules occupying the scalp, face, perianal area, palms, soles and chest. At the same age, the second child only shows pearly skin papules on the face, groin and perianal area and gingival hyperplasia without joint stiffness or any other subjective complaint. The third patient, a brother of the second child, developed mild skin abnormalities by the end of the first year. The occurrence in siblings and consanguinity in the second family suggests autosomal recessive inheritance. Histological skin examination in the 3 cases showed hyaline deposition in the dermis and abnormal ultrastructure of fibroblasts. Biochemical findings showed mucopolysaccharide abnormalities in both families. Conclusion: Our patients do not only illustrate the different expressions of JHF but also show some overlap with ISH, suggesting a common cause for both disorders. Genetic studies will finally answer this question.

Keywords:
Hyalin, Juvenile hyaline fibromatosis, Infantile systemic hyalinosis
1.
Moschella SL, Hurley HJ: Disorders of the corium and subcutaneous tissues: Fibromatoses; in Moschella SL (ed): Dermatology, ed 3. Philadelphia, Saunders Co, 1992, pp 1270–1280.
2.
Burton JL: Fibromatoses: Juvenile hyaline fibromatosis; in Champion RH, Burton JL, Ebling FJG (eds): Textbook of Dermatology, ed 5. Oxford, Blackwell Scientific Publications, 1992.
3.
Glover MT, Lake BD, Atherton DJ: Infantile systemic hyalinosis: Newly recognized disorder of collagen? Pediatrics 1991;87:228–234.
4.
Landing BH, Nadorra R: Infantile systemic hyalinosis: Report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol 1986; 6:55–79.
5.
Sahn EE, Salinas CF, Sens MA, Key J, Swiger FK, Holbrook KA: Infantile systemic hyalinosis in a black infant. Pediatr Dermatol 1994; 11:52–60.
6.
Atherton DJ, Lake BD, Wells RS: Juvenile hyaline fibromatosis. Br J Dermatol 1981;19 (suppl):61–63.
7.
Fayad MN, Yacoub A, Salman S, Khudr A, Der Kaloustian VM: Juvenile hyaline fibromatosis: Two new patients and review of the literature. Am J Med Genet 1987;26:123–131.
8.
Gilaberte Y, Gonzalez-Mediero I, Lopez Barrantes V, Zambrano A: Juvenile hyaline fibromatosis with skull-encephalic anomalies: A case report and review of the literature. Dermatology 1993;187:144–148.
9.
Kan AE, Rogers M: Juvenile hyaline fibromatosis: An expanded clinicopathologic spectrum. Pediatr Dermatol 1989;6:68–75.
10.
Quintal D, Jackson R: Juvenile hyaline fibromatosis. Arch Dermatol 1985;121:1062–1063.
11.
Remberger K, Krieg T, Kunze D, Weinmann H-M, Hübner G: Fibromatosis hyalinica multiplex (juvenile hyaline fibromatosis): Light-microscopic, electron-microscopic, immunohistochemical and biochemical findings. Cancer 1985;56:614–624.
12.
Sciubba JJ, Niebloom T: Juvenile hyaline fibromatosis (Murray-Puretic-Drescher syndrome): Oral and systemic findings in siblings. Oral Surg Oral Med Oral Pathol 1986;62:397–409.
13.
Wang N-S, Knaack J: Fibromatosis hyalinica multiplex juvenilis. Ultrastruct Pathol 1982;3: 153–160.
14.
Bedford CD, Sills JA, Sommelet-Olive D, Boman F, Beltramo F: Juvenile hyaline fibromatosis: A report of two severe cases. J Pediatr 1991;119:404–410.
15.
Dunger DB, Dicks-Mireaux C, Driscoll PO, Lake B, Ersser R, Shaw DG, Grant DB: Two cases of Winchester syndrome with increased urinary oligosaccharide excretion. Eur J Pediatr 1987;146:615–619.
16.
Glover MT, Lake BD, Atherton DJ: Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis. Pediatr Dermatol 1992;9:255–258.
17.
Clover MT, Lake BD, Atherton DJ: Lipoid proteinosis or infantile systemic hyalinosis? Pediatr Dermatol 1993;10:388.
18.
Lubec B, Steinert I, Breier F, Jurecka W, Pillwein K, Fang-Kircher S: Skin collagen defects in a patient with juvenile hyaline fibromatosis. Arch Dis Child 1995;73:246–248.
19.
Kitano Y, Horiki M, Aoki T, Sagami S: Two cases of juvenile hyaline fibromatosis. Some histological, electron-microscopic, and tissue culture observations. Arch Dermatol 1972;106: 877–883.
20.
Zeller B, Storm-Mathisen I, Smevik B, Sund S, Danielsen K, Lie SO: Cure of infantile myofibromatosis with severe respiratory complications without antitumor therapy. Eur J Pediatr 1997;156:841–844.
21.
Jablonska S, Groniowski J, Krieg T, Nerlich A, Peltonen L, Oikarinen A, Dabrowski J, Pietrow D: Congenital fascial dystrophy – A noninflammatory disease of the fascia: The stiff skin syndrome. Pediatr Dermatol 1984;2:87–97.
22.
Iwata S, Horiuchi R, Maeda H, Ishikawa H: Systemic hyalinosis or juvenile hyaline fibromatosis: Ultrastructural and biochemical study of culture skin fibroblasts. Arch Dermatol Res 1980;267:115–121.
23.
Breier F, Fang-Kircher S, Wolff K, Jurecka W: Juvenile hyaline fibromatosis: Impaired collagen metabolism in culture skin fibroblasts. Arch Dis Child 1997;77:436–440.
24.
Cohen AH, Hollister DW, Reed WB: The skin in the Winchester syndrome. Arch Dermatol 1975;111:230–236.
25.
Shinohara O, Kubota C, Kimura M, Nishimura G, Takahashi S: Essential osteolysis associated with nephropathy, corneal opacity and pulmonary stenosis. Am J Med Genet 1991;41: 482–486.
26.
Penttinen M, Niemi KM, Vinkka-Puhakka H, Johansson R, Aula P: New progeroid disorder. Am J Med Genet 1997;69:182–187.
27.
Siu VM, Gordon BA: Juvenile hyaline fibromatosis: Clinical trial of ketotifen therapy. Am J Hum Gent 1994;55(suppl):A93–524).
28.
Humbert P, Aubin F, Delaporte E: Oral calcitriol as a new therapeutic agent in localized and systemic scleroderma. Arch Dermatol 1995;131:850.
29.
Elst EF, Suilekom-Smith L, Oranje AP: Oral calcitriol in linear scleroderma. Submitted.
1999
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